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Nature Reviews. Neurology
|
November 5, 2014
Genetics: Clinical exome sequencing in neurology practice
Satoko Miyatake, Naomichi Matsumoto
Brain and Nerve = Shinkei Kenkyu No Shinpo
|
November 7, 2022
[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]
Satoko Miyatake, Naomichi Matsumoto
Brain & Development
|
August 6, 2018
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan
Miyuki Hoshi, Eriko Koshimizu, Satoko Miyatake, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]
Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
European Heart Journal. Case Reports
|
February 23, 2026
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report
Mai Aida, Junichi Ozawa, Yuya Takahashi, et al.
World Neurosurgery
|
April 23, 2016
Vein of Galen Aneurysmal Malformation in Monozygotic Twin
Masaki Komiyama, Satoko Miyatake, Aiko Terada, et al.
No Shinkei Geka. Neurological Surgery
|
June 24, 2020
[Ruptured Aneurysm of an Aplastic or Twig-like Middle Cerebral Artery with Ring Finger Protein 213 Mutation:A Case Report]
Ryutaro Fukuyama, Kouji Yamamura, Hidetoshi Murata, et al.
Journal of Human Genetics
|
December 19, 2018
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases
Takeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, et al.
Human Genome Variation
|
April 16, 2016
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
Hiroyuki Yahikozawa, Kunihiro Yoshida, Shunichi Sato, et al.
Molecular Syndromology
|
November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case Report
Masashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
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Search research articles
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Showing results (1-10 of 212) with videos related to
Sort By:
Page
of 22
Nature Reviews. Neurology
|
November 5, 2014
Genetics: Clinical exome sequencing in neurology practice
Satoko Miyatake, Naomichi Matsumoto
Brain and Nerve = Shinkei Kenkyu No Shinpo
|
November 7, 2022
[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]
Satoko Miyatake, Naomichi Matsumoto
Brain & Development
|
August 6, 2018
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan
Miyuki Hoshi, Eriko Koshimizu, Satoko Miyatake, et al.
Rinsho Shinkeigaku = Clinical Neurology
|
October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]
Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
European Heart Journal. Case Reports
|
February 23, 2026
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report
Mai Aida, Junichi Ozawa, Yuya Takahashi, et al.
World Neurosurgery
|
April 23, 2016
Vein of Galen Aneurysmal Malformation in Monozygotic Twin
Masaki Komiyama, Satoko Miyatake, Aiko Terada, et al.
No Shinkei Geka. Neurological Surgery
|
June 24, 2020
[Ruptured Aneurysm of an Aplastic or Twig-like Middle Cerebral Artery with Ring Finger Protein 213 Mutation:A Case Report]
Ryutaro Fukuyama, Kouji Yamamura, Hidetoshi Murata, et al.
Journal of Human Genetics
|
December 19, 2018
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases
Takeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, et al.
Human Genome Variation
|
April 16, 2016
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
Hiroyuki Yahikozawa, Kunihiro Yoshida, Shunichi Sato, et al.
Molecular Syndromology
|
November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case Report
Masashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
Page
of 22